Referências
Principais artigos
Mantovani G, Bastepe M, Monk D, et al. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol. 2018 Aug;14(8):476-500.Texto completo Resumo
Mantovani G, Bastepe M, Monk D, et al. Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients. Horm Res Paediatr. 2020;93(3):182-96.Texto completo Resumo
American Society for Bone and Mineral Research. Primer on the metabolic bone diseases and disorders of mineral metabolism. 9th ed. 2018 [internet publication].Texto completo
Mantovani G, Spada A. Mutations in the Gs alpha gene causing hormone resistance. Best Prac Res Clin Endocrinol Metab. 2006 Dec;20(4):501-13. Resumo
Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Bio. 2008;626:27-40. Resumo
Greer FR, Krebs NF; American Academy of Pediatrics Committee on Nutrition. Optimizing bone health and calcium intakes of infants, children, and adolescents. Pediatrics. 2006 Feb;117(2):578-85.Texto completo Resumo
Artigos de referência
1. Mantovani G, Bastepe M, Monk D, et al. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol. 2018 Aug;14(8):476-500.Texto completo Resumo
2. Mantovani G, Bastepe M, Monk D, et al. Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients. Horm Res Paediatr. 2020;93(3):182-96.Texto completo Resumo
3. Spiegel AM, Weinstein LS. Pseudohypoparathyroidism. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York, NY: McGraw-Hill; 1995:3073-89.
4. American Society for Bone and Mineral Research. Primer on the metabolic bone diseases and disorders of mineral metabolism. 9th ed. 2018 [internet publication].Texto completo
5. Mantovani G, de Sanctis L, Barbieri AM, et al. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab. 2010 Feb;95(2):651-8. Resumo
6. Mantovani G. Pseudohypoparathyroidism: diagnosis and treatment. J Clin Endocrinol Metab. 2011 Oct;96(10):3020-30. Resumo
7. Thiele S, de Sanctis L, Werner R, et al. Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction. Hum Mutat. 2011 Jun;32(6):653-60. Resumo
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11. Mantovani G, Spada A. Mutations in the Gs alpha gene causing hormone resistance. Best Prac Res Clin Endocrinol Metab. 2006 Dec;20(4):501-13. Resumo
12. Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Bio. 2008;626:27-40. Resumo
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18. Mantovani G, Bondioni S, Linglart A, et al. Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab. 2007 Sep;92(9):3738-42. Resumo
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23. Klemke M, Pasolli HA, Kehlenbach RH, et al. Characterization of the extra-large G protein alpha-subunit XLalphas. II. Signal transduction properties. J Biol Chem. 2000 Oct 27;275(43):33633-40.Texto completo Resumo
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28. Silve C, Santora A, Breslau N, et al. Selective resistance to parathyroid hormone in cultured skin fibroblasts from patients with pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab. 1986 Apr;62(4):640-4. Resumo
29. Adachi M, Muroya K, Asakura Y, et al. Ectopic calcification as discernible manifestation in neonates with pseudohypoparathyroidism type 1a. Int J Endocrinol. 2009;2009:931057.Texto completo Resumo
30. Thomas KP, Muthugovindan D, Singer HS. Paroxysmal kinesigenic dyskinesias and pseudohypo-parathyroidism type Ib. Pediatr Neurol. 2010 Jul;43(1):61-4. Resumo
31. de Sanctis L, Vai S, Andreo MR, et al. Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. J Clin Endocrinol Metab. 2004 Apr;89(4):1650-5. Resumo
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33. Sbrocchi AM, Rauch F, Lawson ML, et al. Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis. Eur J Endocrinol. 2011 Feb;164(2):295-301. Resumo
34. Winter J, Hiort O, Hermanns P, et al. A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones. J Pediatr Endocrinol Metab. 2011;24(5-6):297-301. Resumo
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36. Martínez-Lage JF, Guillén-Navarro E, López-Guerrero AL, et al. Chiari type 1 anomaly in pseudohypoparathyroidism type Ia: pathogenetic hypothesis. Childs Nerv Syst. 2011 Dec;27(12):2035-9. Resumo
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40. Liu J, Litman D, Rosenberg MJ, et al. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest. 2000 Nov;106(9):1167-74.Texto completo Resumo
41. Bastepe M, Fröhlich LF, Hendy GN, et al. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest. 2003 Oct;112(8):1255-63.Texto completo Resumo
42. Shore EM, Ahn J, Jan de Beur S, et al. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med. 2002 Jan 10;346(2):99-106.Texto completo Resumo
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49. Germain-Lee EL, Groman J, Crane JL, et al. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab. 2003 Sep;88(9):4059-69. Resumo
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